A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914879



Internal ID10672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61043284..61043435hg38UCSC Ensembl
chr2:61270419..61270570hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444656
Supporting Variants
Samples
Known GenesPEX13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914879
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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